Canonical Allele Identifier: CA356444682
Gene: QDPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17492233G>A , CM000666.2:g.17492233G>A GRCh38
NC_000004.11:g.17493856G>A , CM000666.1:g.17493856G>A GRCh37
NC_000004.10:g.17102954G>A NCBI36
NG_008763.1:g.25002C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000706645.1:n.1591C>T
ENST00000281243.10:c.544C>T MANE Select ENSP00000281243.5:p.Pro182Ser
ENST00000281243.9:c.544C>T ENSP00000281243.5:p.Pro182Ser
ENST00000428702.6:c.451C>T ENSP00000390944.2:p.Pro151Ser
ENST00000501943.6:n.281C>T
ENST00000505710.1:c.364-1488C>T
ENST00000507439.5:c.437-1488C>T ENSP00000423227.1:n.437-1488C>T
ENST00000508623.5:c.437-4997C>T ENSP00000426377.1:n.437-4997C>T
ENST00000511609.1:n.276C>T
ENST00000513615.5:c.437-1488C>T ENSP00000422759.1:n.437-1488C>T
ENST00000514300.1:c.*368-1488C>T ENSP00000426039.1:n.*368-1488C>T
NM_000320.2:c.544C>T NP_000311.2:p.Pro182Ser
NM_001306140.1:c.451C>T NP_001293069.1:p.Pro151Ser
XR_241677.1:n.600-1488C>T
NR_156494.1:n.617-1488C>T
NM_000320.3:c.544C>T MANE Select NP_000311.2:p.Pro182Ser
NM_001306140.2:c.451C>T NP_001293069.1:p.Pro151Ser
NR_156494.2:n.473-1488C>T